LOCUS       NM_001289572            1975 bp    mRNA    linear   ROD 10-FEB-2025
DEFINITION  Mus musculus spermatogenesis associated 7 (Spata7), transcript
            variant 2, mRNA.
ACCESSION   NM_001289572 XM_006515357
VERSION     NM_001289572.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1975)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 1975)
  AUTHORS   Lu,J., Xiong,K., Qian,X., Choi,J., Shim,Y.K., Burnett,J., Mardon,G.
            and Chen,R.
  TITLE     Spata7 is required for maintenance of the retinal connecting cilium
  JOURNAL   Sci Rep 12 (1), 5575 (2022)
   PUBMED   35368022
  REMARK    GeneRIF: Spata7 is required for maintenance of the retinal
            connecting cilium.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1975)
  AUTHORS   Collin,G.B., Gogna,N., Chang,B., Damkham,N., Pinkney,J., Hyde,L.F.,
            Stone,L., Naggert,J.K., Nishina,P.M. and Krebs,M.P.
  TITLE     Mouse Models of Inherited Retinal Degeneration with Photoreceptor
            Cell Loss
  JOURNAL   Cells 9 (4), 931 (2020)
   PUBMED   32290105
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1975)
  AUTHORS   Dharmat,R., Eblimit,A., Robichaux,M.A., Zhang,Z., Nguyen,T.T.,
            Jung,S.Y., He,F., Jain,A., Li,Y., Qin,J., Overbeek,P., Roepman,R.,
            Mardon,G., Wensel,T.G. and Chen,R.
  TITLE     SPATA7 maintains a novel photoreceptor-specific zone in the distal
            connecting cilium
  JOURNAL   J Cell Biol 217 (8), 2851-2865 (2018)
   PUBMED   29899041
  REMARK    GeneRIF: The absence of Spata7 results in the mislocalization of
            DCC proteins without affecting the proximal connecting cilium (PCC)
            protein complexes.
REFERENCE   5  (bases 1 to 1975)
  AUTHORS   Kasowitz,S.D., Ma,J., Anderson,S.J., Leu,N.A., Xu,Y., Gregory,B.D.,
            Schultz,R.M. and Wang,P.J.
  TITLE     Nuclear m6A reader YTHDC1 regulates alternative polyadenylation and
            splicing during mouse oocyte development
  JOURNAL   PLoS Genet 14 (5), e1007412 (2018)
   PUBMED   29799838
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1975)
  AUTHORS   Eblimit,A., Agrawal,S.A., Thomas,K., Anastassov,I.A., Abulikemu,T.,
            Moayedi,Y., Mardon,G. and Chen,R.
  TITLE     Conditional loss of Spata7 in photoreceptors causes progressive
            retinal degeneration in mice
  JOURNAL   Exp Eye Res 166, 120-130 (2018)
   PUBMED   29100828
  REMARK    Erratum:[Exp Eye Res. 2018 Jun;171:119. doi:
            10.1016/j.exer.2018.03.011.. PMID: 29579643]
REFERENCE   7  (bases 1 to 1975)
  AUTHORS   Eblimit,A., Nguyen,T.M., Chen,Y., Esteve-Rudd,J., Zhong,H.,
            Letteboer,S., Van Reeuwijk,J., Simons,D.L., Ding,Q., Wu,K.M.,
            Li,Y., Van Beersum,S., Moayedi,Y., Xu,H., Pickard,P., Wang,K.,
            Gan,L., Wu,S.M., Williams,D.S., Mardon,G., Roepman,R. and Chen,R.
  TITLE     Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1
            localization and protein trafficking in the retina
  JOURNAL   Hum Mol Genet 24 (6), 1584-1601 (2015)
   PUBMED   25398945
REFERENCE   8  (bases 1 to 1975)
  AUTHORS   Koscielny,G., Yaikhom,G., Iyer,V., Meehan,T.F., Morgan,H.,
            Atienza-Herrero,J., Blake,A., Chen,C.K., Easty,R., Di Fenza,A.,
            Fiegel,T., Grifiths,M., Horne,A., Karp,N.A., Kurbatova,N.,
            Mason,J.C., Matthews,P., Oakley,D.J., Qazi,A., Regnart,J.,
            Retha,A., Santos,L.A., Sneddon,D.J., Warren,J., Westerberg,H.,
            Wilson,R.J., Melvin,D.G., Smedley,D., Brown,S.D., Flicek,P.,
            Skarnes,W.C., Mallon,A.M. and Parkinson,H.
  TITLE     The International Mouse Phenotyping Consortium Web Portal, a
            unified point of access for knockout mice and related phenotyping
            data
  JOURNAL   Nucleic Acids Res 42 (Database issue), D802-D809 (2014)
   PUBMED   24194600
REFERENCE   9  (bases 1 to 1975)
  AUTHORS   Wang,H., den Hollander,A.I., Moayedi,Y., Abulimiti,A., Li,Y.,
            Collin,R.W., Hoyng,C.B., Lopez,I., Abboud,E.B., Al-Rajhi,A.A.,
            Bray,M., Lewis,R.A., Lupski,J.R., Mardon,G., Koenekoop,R.K. and
            Chen,R.
  TITLE     Mutations in SPATA7 cause Leber congenital amaurosis and juvenile
            retinitis pigmentosa
  JOURNAL   Am J Hum Genet 84 (3), 380-387 (2009)
   PUBMED   19268277
  REMARK    GeneRIF: Spata7 is expressed in the mature mouse retina.
            Erratum:[Am J Hum Genet. 2010 Feb;86(2):293. Abboud, Emad B
            [added]; Al-Rajhi, Ali A [added]]
REFERENCE   10 (bases 1 to 1975)
  AUTHORS   Blackshaw,S., Harpavat,S., Trimarchi,J., Cai,L., Huang,H.,
            Kuo,W.P., Weber,G., Lee,K., Fraioli,R.E., Cho,S.H., Yung,R.,
            Asch,E., Ohno-Machado,L., Wong,W.H. and Cepko,C.L.
  TITLE     Genomic analysis of mouse retinal development
  JOURNAL   PLoS Biol 2 (9), E247 (2004)
   PUBMED   15226823
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY252962.1, AK161308.1 and AK153698.1.
            
            On Jan 24, 2014 this sequence version replaced XM_006515357.1.
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region, compared to variant 1. The encoded
            protein (isoform 2) is shorter, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK161308.1, DQ196101.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849381, SAMN00849384
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-55                BY252962.1         4-58
            56-1896             AK161308.1         2-1842
            1897-1975           AK153698.1         1468-1546
FEATURES             Location/Qualifiers
     source          1..1975
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="12"
                     /map="12 49.88 cM"
     gene            1..1975
                     /gene="Spata7"
                     /gene_synonym="B230306G18Rik; HSD3"
                     /note="spermatogenesis associated 7"
                     /db_xref="GeneID:104871"
                     /db_xref="MGI:MGI:2144877"
     exon            1..193
                     /gene="Spata7"
                     /gene_synonym="B230306G18Rik; HSD3"
                     /inference="alignment:Splign:2.1.0"
     CDS             175..1827
                     /gene="Spata7"
                     /gene_synonym="B230306G18Rik; HSD3"
                     /note="isoform 2 is encoded by transcript variant 2;
                     spermatogenesis-associated protein 7 homolog"
                     /codon_start=1
                     /product="spermatogenesis-associated protein 7 homolog
                     isoform 2"
                     /protein_id="NP_001276501.1"
                     /db_xref="CCDS:CCDS70413.1"
                     /db_xref="GeneID:104871"
                     /db_xref="MGI:MGI:2144877"
                     /translation="MDGSRRVRATSVLPRYSPPCLFTGHLSTKSNAAVDCSIPVSVNT
                     SIKYADQQRREKLRKELARCEKEFKLSKSAMQTNSKMNSKFFVNSLQKPSGEPQDQDV
                     FIEEMTRYPSFSKSLIPSSEGLHLSLPESSKMLMSGTQKHASTSPSRHSGCGHGCDRR
                     PRSAHQFQVALAKTPSGDLLEKHSDLFSNKQSPFTPRTLKTEAKSFLSQYRYYTPAKR
                     RKDFSDQRMEAETQTELSSFNSELGTAEKTSSKDSEVNINQVPNYTRNGAEDKIAPLP
                     SQGQNLAWDSIQDGILQQSSERASCKLSTEFSPDSKIYSDEEELLYLSFMENVTDEIL
                     KLGLFSNRFLERLFERHIKKNKHHLEEGKMRYLLHGLKVDLGCISEEDPAKQKHFRML
                     NQLHFQKALISRENEFVSDEETVSHHERQQYQEALDMLSAVPKDENKMFSLPGEFLIP
                     AHKVKHSEGVIIQQVNDETDNEASPWNENNPSVSDSVIDQETSVDVIEGDSDFERAET
                     SRELCCLSTSLSPSGPFPSINGGSNHGKELSTLRIMGMSIED"
     exon            194..268
                     /gene="Spata7"
                     /gene_synonym="B230306G18Rik; HSD3"
                     /inference="alignment:Splign:2.1.0"
     exon            269..316
                     /gene="Spata7"
                     /gene_synonym="B230306G18Rik; HSD3"
                     /inference="alignment:Splign:2.1.0"
     exon            317..450
                     /gene="Spata7"
                     /gene_synonym="B230306G18Rik; HSD3"
                     /inference="alignment:Splign:2.1.0"
     exon            451..884
                     /gene="Spata7"
                     /gene_synonym="B230306G18Rik; HSD3"
                     /inference="alignment:Splign:2.1.0"
     exon            885..951
                     /gene="Spata7"
                     /gene_synonym="B230306G18Rik; HSD3"
                     /inference="alignment:Splign:2.1.0"
     exon            952..1067
                     /gene="Spata7"
                     /gene_synonym="B230306G18Rik; HSD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1068..1121
                     /gene="Spata7"
                     /gene_synonym="B230306G18Rik; HSD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1122..1199
                     /gene="Spata7"
                     /gene_synonym="B230306G18Rik; HSD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1200..1257
                     /gene="Spata7"
                     /gene_synonym="B230306G18Rik; HSD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1258..1975
                     /gene="Spata7"
                     /gene_synonym="B230306G18Rik; HSD3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1844..1849
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Spata7"
                     /gene_synonym="B230306G18Rik; HSD3"
                     /note="hexamer: AATAAA"
     polyA_site      1873
                     /gene="Spata7"
                     /gene_synonym="B230306G18Rik; HSD3"
                     /note="major polyA site"
     regulatory      1941..1946
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Spata7"
                     /gene_synonym="B230306G18Rik; HSD3"
                     /note="hexamer: AATAAA"
     polyA_site      1971
                     /gene="Spata7"
                     /gene_synonym="B230306G18Rik; HSD3"
ORIGIN      
        1 ataatctgca gccgcggagc tcgcccttag caaccgccct ggcgactgtc gctgtgaccc
       61 tttgcgcccc cgcggtcctg gtcttttcct tttcacctcc gctgcggggg agctcggctt
      121 catcccagta agaaccaagg ggatacaacc gcggaggccg caggaggact aagcatggat
      181 ggcagccgga gagtcagagc aacctctgtc ctccccagat acagccctcc atgcttgttt
      241 acaggacacc tgagcaccaa gagcaacgcc gcagtggact gctcaattcc agtaagtgtg
      301 aatactagca tcaaatatgc tgaccaacaa cgaagagaaa aactgaggaa ggagttggca
      361 cggtgtgaaa aggagtttaa attaagtaaa tctgctatgc agaccaattc taagatgaat
      421 tccaagttct ttgtaaattc tctacagaag ccctcagggg aaccacaaga ccaggatgtg
      481 ttcatagaag aaatgacaag atacccatca ttttcaaagt cactcatccc ttcttccgag
      541 ggactgcatc taagtctgcc tgaatcaagt aagatgctca tgagtggcac ccagaagcat
      601 gccagcacct ctccatccag acactcaggc tgtgggcatg gctgcgacag gcggcctcgg
      661 agtgcccacc agttccaggt agccctcgcc aagaccccaa gtggagatct gttggaaaag
      721 cactctgacc tcttctctaa caagcagtcg ccattcactc cacgaacttt aaaaacagaa
      781 gcaaagtcct tcctgtcaca gtaccgctac tacacacctg ccaaaagaag aaaggatttt
      841 tcagatcagc ggatggaagc tgaaacccaa actgaattaa gcagctttaa ctctgagctt
      901 gggacagctg agaaaacgag ctcaaaggac tcagaagtga acataaacca ggtacctaat
      961 tacacgagaa atggtgctga agacaaaata gctcctttac cctcacaagg acaaaactta
     1021 gcatgggaca gtattcaaga tgggattctg cagcagtcct cagaaagggc atcctgtaag
     1081 ctctccacag agttttctcc agacagtaaa atctactctg atgaagaaga gctgctgtac
     1141 ctgagtttca tggaaaatgt gacggatgaa atcttgaaac ttggtttatt ttctaacagg
     1201 tttctagagc gactgtttga gcgacatata aagaaaaata aacatcattt ggaggaggga
     1261 aagatgcgct acctgctgca tgggctgaag gttgacttag gctgcatatc tgaggaagac
     1321 ccagcaaagc aaaaacattt cagaatgttg aatcaacttc attttcaaaa ggctctgatt
     1381 tcaagagaaa atgagtttgt aagtgatgaa gaaacagtga gtcaccacga gcgccagcag
     1441 taccaggagg ccctggacat gctgtcggct gtgccgaagg acgaaaacaa gatgttctct
     1501 ttaccgggcg aatttttaat acccgcccat aaagtcaagc attcagaggg tgttataatt
     1561 caacaggtca atgacgaaac agataatgaa gcctcaccct ggaatgaaaa caatccaagt
     1621 gtttctgata gtgtaataga ccaggaaacc tctgtggatg tcattgaagg tgacagtgac
     1681 tttgaaaggg ctgagacttc cagggaactc tgttgtctga gcacatcact gtccccatct
     1741 ggtccattcc ccagcatcaa tggtggcagt aatcatggta aggaattatc gactctacga
     1801 atcatgggaa tgagcattga agactgacct ctggatctac attaataaac actccatgtg
     1861 gccagtaact caatattact tttcttcttt ttttttgtcc ccttttacat attaagattt
     1921 ctgtaatttc aatgctatgt aataaattac cacaatttta gtgtcttgaa acacc
//
